Ptosis coloboma mental retardation

Common Name(s)

Ptosis coloboma mental retardation

Ptosis, coloboma, mental retardation is a rare combination of features characterized by droopy eyelids, an irregular gap in the colored part of the eye (the iris), and intellectual disability. It has been suggested that this combination of features constitutes a unique genetic syndrome or condition. Currently the medical literature on the topic is still evolving.

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Finding the right clinical trial for Ptosis coloboma mental retardation can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ptosis coloboma mental retardation" returned 3 free, full-text research articles on human participants.
First 3 results:

Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the ...

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ptosis coloboma mental retardation" returned 1 free, full-text review articles on human participants.
First 3 results:

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Ptosis coloboma mental retardation" (open studies are recruiting volunteers) and 0 "Ptosis coloboma mental retardation" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Ptosis coloboma mental retardation can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.